RGD Reference Report - BANK1 functional variants are associated with susceptibility to diffuse systemic sclerosis in Caucasians. - Rat Genome Database

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BANK1 functional variants are associated with susceptibility to diffuse systemic sclerosis in Caucasians.

Authors: Rueda, B  Gourh, P  Broen, J  Agarwal, SK  Simeon, C  Ortego-Centeno, N  Vonk, MC  Coenen, M  Riemekasten, G  Hunzelmann, N  Hesselstrand, R  Tan, FK  Reveille, JD  Assassi, S  Garcia-Hernandez, FJ  Carreira, P  Camps, M  Fernandez-Nebro, A  Garcia de la Pena, P  Nearney, T  Hilda, D  Gonzalez-Gay, MA  Airo, P  Beretta, L  Scorza, R  Radstake, TR  Mayes, MD  Arnett, FC  Martin, J 
Citation: Rueda B, etal., Ann Rheum Dis. 2010 Apr;69(4):700-5. doi: 10.1136/ard.2009.118174. Epub 2009 Oct 8.
RGD ID: 9684975
Pubmed: PMID:19815934   (View Abstract at PubMed)
PMCID: PMC2975737   (View Article at PubMed Central)
DOI: DOI:10.1136/ard.2009.118174   (Journal Full-text)

OBJECTIVE: To investigate the possible association of the BANK1 gene with genetic susceptibility to systemic sclerosis (SSc) and its subphenotypes. METHODS: A large multicentre case-control association study including 2380 patients with SSc and 3270 healthy controls from six independent case-control sets of Caucasian ancestry (American, Spanish, Dutch, German, Swedish and Italian) was conducted. Three putative functional BANK1 polymorphisms (rs17266594 T/C, rs10516487 G/A, rs3733197 G/A) were selected as genetic markers and genotyped by Taqman 5 allelic discrimination assay. RESULTS: A significant association of the rs10516487 G and rs17266594 T alleles with SSc susceptibility was observed (pooled OR=1.12, 95% CI 1.03 to 1.22; p=0.01 and pooled OR=1.14, 95% CI 1.05 to 1.25; p=0.003, respectively), whereas the rs3733197 genetic variant showed no statistically significant deviation. Stratification for cutaneous SSc phenotype showed that the BANK1 rs10516487 G, rs17266594 T and rs3733197 G alleles were strongly associated with susceptibility to diffuse SSc (dcSSc) (pooled OR=1.20, 95% CI 1.05 to 1.37, p=0.005; pooled OR=1.23, 95% CI 1.08 to 1.41, p=0.001; pooled OR=1.15, 95% CI 1.02 to 1.31, p=0.02, respectively). Similarly, stratification for specific SSc autoantibodies showed that the association of BANK1 rs10516487, rs17266594 and rs3733197 polymorphisms was restricted to the subgroup of patients carrying anti-topoisomerase I antibodies (pooled OR=1.20, 95% CI 1.02 to 1.41, p=0.03; pooled OR=1.24, 95% CI 1.05 to 1.46, p=0.01; pooled OR=1.26, 95% CI 1.07 to 1.47, p=0.004, respectively). CONCLUSION: The results suggest that the BANK1 gene confers susceptibility to SSc in general, and specifically to the dcSSc and anti-topoisomerase I antibody subsets.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
diffuse scleroderma susceptibilityIAGP 9684975DNA:SNPs: :rs10516487 more ...RGD 
diffuse scleroderma susceptibilityISOBANK1 (Homo sapiens)9684975; 9684975DNA:SNPs: :rs10516487 more ...RGD 
systemic scleroderma susceptibilityIAGP 9684975DNA:SNPs: :rs10516487 and rs17266594(human)RGD 
systemic scleroderma susceptibilityISOBANK1 (Homo sapiens)9684975; 9684975DNA:SNPs: :rs10516487 and rs17266594(human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Bank1  (B-cell scaffold protein with ankyrin repeats 1)

Genes (Mus musculus)
Bank1  (B cell scaffold protein with ankyrin repeats 1)

Genes (Homo sapiens)
BANK1  (B cell scaffold protein with ankyrin repeats 1)


Additional Information